Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.
D017398:Alternative Splicing / Q000235:genetics; D000818:Animals; D016466:CHO Cells / Q000737:chemistry / Q000378:metabolism; D002460:Cell Line; D002478:Cells, Cultured; D006224:Cricetinae; D004252:DNA Mutational Analysis / Q000379:methods*; D005347:Fibroblasts / Q000166:cytology / Q000201:enzymology; D006801:Humans; D007438:Introns / Q000235:genetics; D009085:Mucopolysaccharidosis IV / Q000188:drug therapy* / Q000201:enzymology / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000096:biosynthesis / Q000235:genetics* / Q000502:physiology / Q000627:therapeutic use*; D017354:Point Mutation / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics; D012867:Skin / Q000166:cytology
D020051:N-Acetylgalactosamine-4-Sulfatase